Catel Manzke syndrome

Summary
Synonym
  • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
  • Micrognathia digital syndrome
Definition
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Super Class
bone disease
Disease Ontology
DOID:0081122
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23483 TGDS TDP-glucose 4,6-dehydratase
The Human Phenotype Ontology
Displaying entries 31 - 40 of 63 in total
HPO ID HPO Term
HP:0000201 Pierre-Robin sequence
HP:0000204 Cleft upper lip
HP:0000218 High palate
HP:0000369 Low-set ears
HP:0000460 Narrow nose
HP:0000470 Short neck
HP:0000476 Cystic hygroma
HP:0000520 Proptosis
HP:0000579 Nasolacrimal duct obstruction
HP:0000582 Upslanted palpebral fissure
Displaying 1 entry
Gene ID Gene Symbol Description
23483 TGDS TDP-glucose 4,6-dehydratase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024